Imported Disease Annotations - ClinVarTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | autistic disorder | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Autistic disorder | ClinVar | | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | ClinVar | PMID:17576681 more ... | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | ClinVar | PMID:19264732 more ... | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | ClinVar | PMID:25741868, PMID:28228639 | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | ClinVar | PMID:27164704 more ... | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | ClinVar | PMID:25326635, PMID:25741868 | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | ClinVar | PMID:25326635 more ... | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | ClinVar | PMID:25741868 more ... | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | ClinVar | PMID:10197535 more ... | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | ClinVar | PMID:25741868 more ... | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | ClinVar | PMID:20716669 more ... | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 8 | ClinVar | PMID:26467025, PMID:28492532 | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | ClinVar | PMID:25864721 more ... | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 8 | ClinVar | PMID:25741868 | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | ClinVar | PMID:25741868 more ... | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | ClinVar | PMID:26633542, PMID:28492532 | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | ClinVar | PMID:25741868 more ... | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant | ClinVar | PMID:17576681 more ... | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 8 | ClinVar | PMID:25864721 | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 8 | ClinVar | PMID:27164704 | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 8 | ClinVar | PMID:25864721, PMID:27164704 | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 8 | ClinVar | PMID:25741868, PMID:28492532 | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 8 | ClinVar | PMID:21376300, PMID:27164704 | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by OMIM:614254 | ClinVar | PMID:21376300 | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by OMIM:614254 | ClinVar | | autosomal dominant non-syndromic intellectual disability 8 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Mental retardation, autosomal dominant 8 | ClinVar | PMID:28492532 | benign epilepsy with centrotemporal spikes | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Rolandic epilepsy | ClinVar | PMID:29358611 | developmental and epileptic encephalopathy 14 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 | ClinVar | PMID:19264732 more ... | developmental and epileptic encephalopathy 14 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Early infantile epileptic encephalopathy 14 | ClinVar | PMID:28492532 | Developmental Disabilities | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Global developmental delay | ClinVar | PMID:25741868 more ... | epilepsy | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Seizures | ClinVar | PMID:20716669 more ... | epilepsy | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Epilepsy | ClinVar | | genetic disease | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | | genetic disease | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:28492532 | genetic disease | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:25741868 more ... | genetic disease | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:15970596 | genetic disease | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10197535 more ... | genetic disease | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:10201407 more ... | genetic disease | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Inborn genetic diseases | ClinVar | PMID:20716669 more ... | Hemimegalencephaly | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Hemimegalencephaly | ClinVar | PMID:25741868 | intellectual disability | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25167861 | intellectual disability | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 more ... | intellectual disability | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:10201407 more ... | intellectual disability | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868 | intellectual disability | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Intellectual disability | ClinVar | PMID:25741868, PMID:28492532 | Kleefstra syndrome 1 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:19264732 more ... | Kleefstra syndrome 1 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:25741868 | Kleefstra syndrome 1 | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Kleefstra syndrome 1 | ClinVar | PMID:26833960, PMID:28492532 | Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | ClinVar | PMID:27164704 | Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | ClinVar | PMID:25741868, PMID:28492532 | Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive | ClinVar | PMID:25741868 more ... | Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL RECESSIVE | ClinVar | PMID:25741868 | Neurodevelopmental Disorder with or without Hyperkinetic Movements and Seizures, Autosomal Recessive | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS WITHOUT SEIZURES, AUTOSOMAL RECESSIVE | ClinVar | PMID:25741868 more ... | Neurodevelopmental Disorders | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Neurodevelopmental disorder | ClinVar | PMID:25326635 more ... | prostate cancer | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Prostate cancer | ClinVar | PMID:23265383 | visual epilepsy | | ISO | RGD:731784 | 8554872 | ClinVar Annotator: match by term: Seizures | ClinVar | PMID:20716669 more ... | | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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References
References - curated
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Additional References at PubMed
| PMID:1352681 | PMID:1374164 | PMID:1377365 | PMID:1385220 | PMID:1386026 | PMID:1388270 | PMID:1532151 | PMID:1834949 | PMID:7524561 | PMID:7531804 | PMID:7679115 | PMID:7684237 |
| PMID:7685113 | PMID:7907365 | PMID:8060614 | PMID:8313466 | PMID:8399301 | PMID:8713451 | PMID:8840015 | PMID:8980238 | PMID:8980239 | PMID:9003035 | PMID:9054942 | PMID:9246451 |
| PMID:9556603 | PMID:10479699 | PMID:10480938 | PMID:10481908 | PMID:10700255 | PMID:10719900 | PMID:10749211 | PMID:10777815 | PMID:10818139 | PMID:10846156 | PMID:10963597 | PMID:11160393 |
| PMID:11248114 | PMID:11588171 | PMID:11754835 | PMID:11754836 | PMID:11911857 | PMID:11929923 | PMID:12022233 | PMID:12040087 | PMID:12065411 | PMID:12076738 | PMID:12201628 | PMID:12391275 |
| PMID:12414093 | PMID:12586454 | PMID:12646556 | PMID:12657691 | PMID:12663061 | PMID:12676993 | PMID:12687684 | PMID:12697759 | PMID:12699333 | PMID:12718863 | PMID:12764094 | PMID:12805203 |
| PMID:12832526 | PMID:12858054 | PMID:12859686 | PMID:12884967 | PMID:12890763 | PMID:14530275 | PMID:14645471 | PMID:14706556 | PMID:14732708 | PMID:14960371 | PMID:15003177 | PMID:15107472 |
| PMID:15173637 | PMID:15201510 | PMID:15265649 | PMID:15266550 | PMID:15306812 | PMID:15312654 | PMID:15317856 | PMID:15356198 | PMID:15364406 | PMID:15379998 | PMID:15464993 | PMID:15467708 |
| PMID:15469880 | PMID:15537884 | PMID:15576450 | PMID:15610162 | PMID:15629447 | PMID:15634765 | PMID:15663482 | PMID:15737435 | PMID:15745956 | PMID:15748150 | PMID:15760935 | PMID:15809437 |
| PMID:15854589 | PMID:15885982 | PMID:15888440 | PMID:15908129 | PMID:15967799 | PMID:15996549 | PMID:16025111 | PMID:16049015 | PMID:16076026 | PMID:16101757 | PMID:16126302 | PMID:16228995 |
| PMID:16281028 | PMID:16299502 | PMID:16319314 | PMID:16417630 | PMID:16504537 | PMID:16513640 | PMID:16551623 | PMID:16573586 | PMID:16606616 | PMID:16611824 | PMID:16635252 | PMID:16638606 |
| PMID:16710293 | PMID:16814779 | PMID:16861057 | PMID:16862452 | PMID:16868181 | PMID:16906136 | PMID:17004940 | PMID:17015831 | PMID:17047094 | PMID:17077143 | PMID:17093100 | PMID:17156363 |
| PMID:17229826 | PMID:17255096 | PMID:17311919 | PMID:17313573 | PMID:17455306 | PMID:17456392 | PMID:17459877 | PMID:17509768 | PMID:17556551 | PMID:17556843 | PMID:17670980 | PMID:17689191 |
| PMID:17803966 | PMID:17873364 | PMID:17933570 | PMID:17942238 | PMID:17969105 | PMID:18033813 | PMID:18041094 | PMID:18055458 | PMID:18095593 | PMID:18272600 | PMID:18272676 | PMID:18279317 |
| PMID:18385465 | PMID:18390190 | PMID:18423864 | PMID:18439999 | PMID:18445116 | PMID:18479834 | PMID:18554806 | PMID:18592148 | PMID:18629001 | PMID:18644839 | PMID:18720514 | PMID:18728179 |
| PMID:18801922 | PMID:18809793 | PMID:18927268 | PMID:18936081 | PMID:19020286 | PMID:19185544 | PMID:19238810 | PMID:19361480 | PMID:19365572 | PMID:19394426 | PMID:19399396 | PMID:19407255 |
| PMID:19452450 | PMID:19474322 | PMID:19547699 | PMID:19608740 | PMID:19655413 | PMID:19666081 | PMID:19694907 | PMID:19703901 | PMID:19705939 | PMID:19726645 | PMID:19772634 | PMID:19861419 |
| PMID:19923273 | PMID:19934647 | PMID:20008465 | PMID:20016075 | PMID:20056114 | PMID:20064569 | PMID:20146080 | PMID:20414717 | PMID:20427654 | PMID:20448042 | PMID:20463582 | PMID:20623763 |
| PMID:20688433 | PMID:20844142 | PMID:20850419 | PMID:20854252 | PMID:20871158 | PMID:20884369 | PMID:20980539 | PMID:21049621 | PMID:21068333 | PMID:21162311 | PMID:21171367 | PMID:21180126 |
| PMID:21185848 | PMID:21292463 | PMID:21293467 | PMID:21310774 | PMID:21355301 | PMID:21368124 | PMID:21397592 | PMID:21499738 | PMID:21522138 | PMID:21669274 | PMID:21719075 | PMID:21734292 |
| PMID:21795692 | PMID:21813695 | PMID:21883149 | PMID:21883211 | PMID:21948527 | PMID:22094385 | PMID:22097734 | PMID:22102472 | PMID:22105219 | PMID:22405206 | PMID:22500715 | PMID:22508518 |
| PMID:22512920 | PMID:22546338 | PMID:22652057 | PMID:22681877 | PMID:22743575 | PMID:22762252 | PMID:22871113 | PMID:22891278 | PMID:22952988 | PMID:23110394 | PMID:23164617 | PMID:23221411 |
| PMID:23381906 | PMID:23383317 | PMID:23392471 | PMID:23395379 | PMID:23537341 | PMID:23562375 | PMID:23578394 | PMID:23640243 | PMID:23672716 | PMID:23715865 | PMID:23760273 | PMID:23941530 |
| PMID:23972471 | PMID:24029697 | PMID:24040266 | PMID:24069373 | PMID:24072709 | PMID:24184018 | PMID:24278457 | PMID:24360204 | PMID:24388786 | PMID:24442866 | PMID:24607230 | PMID:24663672 |
| PMID:24916964 | PMID:25041985 | PMID:25335889 | PMID:25544544 | PMID:25683482 | PMID:25772108 | PMID:25825749 | PMID:25829490 | PMID:25867330 | PMID:25896221 | PMID:25932647 | PMID:25937004 |
| PMID:26045554 | PMID:26071959 | PMID:26133372 | PMID:26220171 | PMID:26370091 | PMID:26490687 | PMID:26725465 | PMID:26875626 | PMID:26919761 | PMID:26930443 | PMID:27089914 | PMID:27094552 |
| PMID:27160909 | PMID:27430327 | PMID:27494324 | PMID:27810863 | PMID:27831563 | PMID:28105280 | PMID:28228639 | PMID:28263869 | PMID:28958939 | PMID:29390057 | PMID:29476059 | PMID:29490264 |
| PMID:29779156 | PMID:29921713 | PMID:30500536 | PMID:31277281 | PMID:31444392 | PMID:32015122 | PMID:32320718 | PMID:32553080 | PMID:32749055 | PMID:33075473 | PMID:33122756 | PMID:33339841 |
| PMID:33393454 | PMID:33759085 |
Genomics
